메뉴 건너뛰기




Volumn 73, Issue 1, 2013, Pages 19-37

Epigenetic mechanisms of gene expression regulation in neurological diseases

Author keywords

Angelman syndrome; Epigenetic modifiers; Epigenetic regulation; Fragile X syndrome; Genomic imprinting; Prader Willi syndrome; Rett syndrome

Indexed keywords

GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETICS; HUMAN; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW;

EID: 84878406298     PISSN: 00651400     EISSN: 16890035     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (36)

References (126)
  • 2
    • 84860202594 scopus 로고    scopus 로고
    • CDKL5-Related Disorders: From Clinical Description to Molecular Genetics
    • Bahi-Buisson N, Bienvenu T (2012) CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol 2: 137-152.
    • (2012) Mol Syndromol , vol.2 , pp. 137-152
    • Bahi-Buisson, N.1    Bienvenu, T.2
  • 3
    • 84866725323 scopus 로고    scopus 로고
    • Rett syndrome: Genes, synapses, circuits, and therapeutics
    • Banerjee A, Castro J, Sur M (2012) Rett syndrome: genes, synapses, circuits, and therapeutics. Front Psychiatry 3: 34.
    • (2012) Front Psychiatry , vol.3 , pp. 34
    • Banerjee, A.1    Castro, J.2    Sur, M.3
  • 4
    • 81055143786 scopus 로고    scopus 로고
    • Do assisted conception twins have an increased risk for anencephaly?
    • Ben-Ami I, Edel Y, Barel O, Vaknin Z, Herman A, Maymon R (2011) Do assisted conception twins have an increased risk for anencephaly? Hum Reprod 26: 3466-3471.
    • (2011) Hum Reprod , vol.26 , pp. 3466-3471
    • Ben-Ami, I.1    Edel, Y.2    Barel, O.3    Vaknin, Z.4    Herman, A.5    Maymon, R.6
  • 5
    • 85027951676 scopus 로고    scopus 로고
    • Functions of noncoding RNAs in neural development and neurological diseases
    • Bian S, Sun T (2011) Functions of noncoding RNAs in neural development and neurological diseases. Mol Neurobiol 44: 359-373.
    • (2011) Mol Neurobiol , vol.44 , pp. 359-373
    • Bian, S.1    Sun, T.2
  • 6
    • 54049150793 scopus 로고    scopus 로고
    • microRNAs: Tiny regulators of synapse function in development and disease
    • Bicker S, Schratt G (2008) microRNAs: tiny regulators of synapse function in development and disease. J Cell Mol Med 12: 1466-1476.
    • (2008) J Cell Mol Med , vol.12 , pp. 1466-1476
    • Bicker, S.1    Schratt, G.2
  • 8
    • 77955888515 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndrome
    • Buiting K (2010) Prader-Willi and Angelman syndrome. Am J Med Genet C Semin Med Genet 154C: 365-376.
    • (2010) Am J Med Genet C Semin Med Genet , vol.154 C , pp. 365-376
    • Buiting, K.1
  • 9
    • 77249087062 scopus 로고    scopus 로고
    • Genomic imprinting disorders in humans: A mini-review
    • Butler MG (2009) Genomic imprinting disorders in humans: A mini-review. J Assist Reprod Genet 26: 477-486.
    • (2009) J Assist Reprod Genet , vol.26 , pp. 477-486
    • Butler, M.G.1
  • 11
    • 84867470460 scopus 로고    scopus 로고
    • The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
    • Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH (2012) The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat 33: 1520-1525.
    • (2012) Hum Mutat , vol.33 , pp. 1520-1525
    • Campeau, P.M.1    Lu, J.T.2    Dawson, B.C.3    Fokkema, I.F.4    Robertson, S.P.5    Gibbs, R.A.6    Lee, B.H.7
  • 12
    • 77955406842 scopus 로고    scopus 로고
    • Angelman syndrome, a genomic imprinting disorder of the brain
    • Chamberlain SJ, Lalande M (2010a) Angelman syndrome, a genomic imprinting disorder of the brain. J Neurosci 30: 9958-9963.
    • (2010) J Neurosci , vol.30 , pp. 9958-9963
    • Chamberlain, S.J.1    Lalande, M.2
  • 13
    • 77952885487 scopus 로고    scopus 로고
    • Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13
    • Chamberlain SJ, Lalande M (2010b) Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13. Neurobiol Dis 39: 13-20.
    • (2010) Neurobiol Dis , vol.39 , pp. 13-20
    • Chamberlain, S.J.1    Lalande, M.2
  • 15
    • 80054076295 scopus 로고    scopus 로고
    • Does in vitro fertilisation increase type 2 diabetes and cardiovascular risk?
    • Chen M, Norman RJ, Heilbronn LK (2011) Does in vitro fertilisation increase type 2 diabetes and cardiovascular risk? Curr Diabetes Rev 7: 426-432.
    • (2011) Curr Diabetes Rev , vol.7 , pp. 426-432
    • Chen, M.1    Norman, R.J.2    Heilbronn, L.K.3
  • 17
    • 83755228990 scopus 로고    scopus 로고
    • Suppression of aggregate formation of mutant huntingtin potentiates CREB-binding protein sequestration and apoptotic cell death
    • Choi YJ, Kim SI, Lee JW, Kwon YS, Lee HJ, Kim SS, Chun W (2012) Suppression of aggregate formation of mutant huntingtin potentiates CREB-binding protein sequestration and apoptotic cell death. Mol Cell Neurosci 49: 127-137.
    • (2012) Mol Cell Neurosci , vol.49 , pp. 127-137
    • Choi, Y.J.1    Kim, S.I.2    Lee, J.W.3    Kwon, Y.S.4    Lee, H.J.5    Kim, S.S.6    Chun, W.7
  • 19
    • 84863900133 scopus 로고    scopus 로고
    • MECP2-related disorders
    • Internet, Pagon RA, Bird TD, Dolan CR, et al., Eds, University of Washington, Seattle, WA, Available at
    • Christodoulou J, Ho G (2012) MECP2-related disorders. In: GeneReviews™ [Internet] (Pagon RA, Bird TD, Dolan CR, et al., Eds). University of Washington, Seattle, WA. [Available at: http://www.ncbi.nlm.nih.gov/books/NBK1497/]
    • (2012) GeneReviews™
    • Christodoulou, J.1    Ho, G.2
  • 20
    • 77952349119 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor: A dynamic gatekeeper of neural plasticity
    • Cowansage KK, LeDoux JE, Monfils MH (2010) Brain-derived neurotrophic factor: a dynamic gatekeeper of neural plasticity. Curr Mol Pharmacol 3: 12-29.
    • (2010) Curr Mol Pharmacol , vol.3 , pp. 12-29
    • Cowansage, K.K.1    Ledoux, J.E.2    Monfils, M.H.3
  • 23
    • 84858705453 scopus 로고    scopus 로고
    • Angelman syndrome
    • Internet, Pagon RA, Bird TD, Dolan CR, et al., Eds, University of Washington, Seattle, WA, Available at
    • Dagli AI, Williams CA (2011) Angelman syndrome. In: GeneReviews™ [Internet] (Pagon RA, Bird TD, Dolan CR, et al., Eds). University of Washington, Seattle, WA [Available at http://www.ncbi.nlm.nih.gov/books/NBK1144/]
    • (2011) GeneReviews™
    • Dagli, A.I.1    Williams, C.A.2
  • 26
    • 79955538772 scopus 로고    scopus 로고
    • In sickness and in health: The role of methyl-CpG binding protein 2 in the central nervous system
    • Díaz de León-Guerrero S, Pedraza-Alva G, Pérez-Martínez L (2011) In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system. Eur J Neurosci 33: 1563-1574.
    • (2011) Eur J Neurosci , vol.33 , pp. 1563-1574
    • Díaz de León-Guerrero, S.1    Pedraza-Alva, G.2    Pérez-Martínez, L.3
  • 27
    • 37549057995 scopus 로고    scopus 로고
    • The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
    • Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL (2008) The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet 17: 111-118.
    • (2008) Hum Mol Genet , vol.17 , pp. 111-118
    • Dindot, S.V.1    Antalffy, B.A.2    Bhattacharjee, M.B.3    Beaudet, A.L.4
  • 28
    • 84885113810 scopus 로고    scopus 로고
    • Prader-Willi syndrome
    • Internet, Pagon RA, Bird TD, Dolan CR, et al., Eds, University of Washington, Seattle, WA, Available at
    • Driscoll DJ, Miller JL, Schwartz S (2012) Prader-Willi syndrome. In: GeneReviews™ [Internet] (Pagon RA, Bird TD, Dolan CR, et al., Eds). University of Washington, Seattle, WA. [Available at: http://www.ncbi.nlm.nih.gov/books/NBK1330/]
    • (2012) GeneReviews™
    • Driscoll, D.J.1    Miller, J.L.2    Schwartz, S.3
  • 30
    • 42649130058 scopus 로고    scopus 로고
    • ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation
    • Ehrlich M, Sanchez C, Shao C, Nishiyama R, Kehrl J, Kuick R, Kubota T, Hanash SM (2008) ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 41: 253-271.
    • (2008) Autoimmunity , vol.41 , pp. 253-271
    • Ehrlich, M.1    Sanchez, C.2    Shao, C.3    Nishiyama, R.4    Kehrl, J.5    Kuick, R.6    Kubota, T.7    Hanash, S.M.8
  • 32
    • 40949093544 scopus 로고    scopus 로고
    • Epigenetics at the epicenter of modern medicine
    • Feinberg AP (2008) Epigenetics at the epicenter of modern medicine. JAMA 299: 1345-1350.
    • (2008) JAMA , vol.299 , pp. 1345-1350
    • Feinberg, A.P.1
  • 33
    • 84860130204 scopus 로고    scopus 로고
    • FOXG1-Related Disorders: From Clinical Description to Molecular Genetics
    • Florian C, Bahi-Buisson N, Bienvenu T (2012) FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol 2: 153-163.
    • (2012) Mol Syndromol , vol.2 , pp. 153-163
    • Florian, C.1    Bahi-Buisson, N.2    Bienvenu, T.3
  • 36
    • 67649921127 scopus 로고    scopus 로고
    • The genetic landscape of intellectual disability arising from chromosome X
    • Gécz J, Shoubridge C, Corbett M (2009) The genetic landscape of intellectual disability arising from chromosome X. Trends Genet 25: 308-316.
    • (2009) Trends Genet , vol.25 , pp. 308-316
    • Gécz, J.1    Shoubridge, C.2    Corbett, M.3
  • 37
    • 80755185112 scopus 로고    scopus 로고
    • Fifty years of X-inactivation research
    • Gendrel AV, Heard E (2011) Fifty years of X-inactivation research. Development 138: 5049-5055.
    • (2011) Development , vol.138 , pp. 5049-5055
    • Gendrel, A.V.1    Heard, E.2
  • 40
    • 0036047176 scopus 로고    scopus 로고
    • Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism
    • Gos M, Szpecht-Potocka A (2002) Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism. J Appl Genet 43: 511-524.
    • (2002) J Appl Genet , vol.43 , pp. 511-524
    • Gos, M.1    Szpecht-Potocka, A.2
  • 41
    • 84870585042 scopus 로고    scopus 로고
    • Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies
    • Guerrini R, Parrini E (2012) Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia 53: 2067-2078.
    • (2012) Epilepsia , vol.53 , pp. 2067-2078
    • Guerrini, R.1    Parrini, E.2
  • 42
    • 84875212476 scopus 로고    scopus 로고
    • Epigenetic disturbances in in vitro cultured gametes and embryos: Implications for human assisted reproduction
    • Jan 25. pii: S0015-0282(13)00006-X. [Epub ahead of print]
    • El Hajj N, Haaf T (2013) Epigenetic disturbances in in vitro cultured gametes and embryos: implications for human assisted reproduction. Fertil Steril. 2013 Jan 25. pii: S0015-0282(13)00006-X. [Epub ahead of print]
    • (2013) Fertil Steril
    • El Hajj, N.1    Haaf, T.2
  • 44
    • 33645455075 scopus 로고    scopus 로고
    • Imprinting defects on human chromosome 15
    • Horsthemke B, Buiting K (2006) Imprinting defects on human chromosome 15. Cytogenet Genome Res 113: 292-299.
    • (2006) Cytogenet Genome Res , vol.113 , pp. 292-299
    • Horsthemke, B.1    Buiting, K.2
  • 45
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader-Willi/Angelman region
    • Horsthemke B, Wagstaff J (2008) Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 146A: 2041-2052.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 46
  • 48
    • 70349332644 scopus 로고    scopus 로고
    • Interplay between DNA methylation, histone modification and chromatin remodeling in stem cells and during development
    • Ikegami K, Ohgane J, Tanaka S, Yagi S, Shiota K (2009) Interplay between DNA methylation, histone modification and chromatin remodeling in stem cells and during development. Int J Dev Biol 53: 203-214.
    • (2009) Int J Dev Biol , vol.53 , pp. 203-214
    • Ikegami, K.1    Ohgane, J.2    Tanaka, S.3    Yagi, S.4    Shiota, K.5
  • 49
    • 80054012576 scopus 로고    scopus 로고
    • Epigenetics and assisted reproductive technology
    • Iliadou AN, Janson PC, Cnattingius S (2011) Epigenetics and assisted reproductive technology. J Intern Med 270: 414-420.
    • (2011) J Intern Med , vol.270 , pp. 414-420
    • Iliadou, A.N.1    Janson, P.C.2    Cnattingius, S.3
  • 50
    • 0034255591 scopus 로고    scopus 로고
    • Imprinted genes, cognition and behaviour
    • Isles AR, Wilkinson LS (2000) Imprinted genes, cognition and behaviour. Trends Cogn Sci 4: 309-318.
    • (2000) Trends Cogn Sci , vol.4 , pp. 309-318
    • Isles, A.R.1    Wilkinson, L.S.2
  • 51
    • 84864269400 scopus 로고    scopus 로고
    • Endocrine problems in children with Prader-Willi syndrome: Special review on associated genetic aspects and early growth hormone treatment
    • Jin DK (2012) Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment. Korean J Pediatr 55: 224-231.
    • (2012) Korean J Pediatr , vol.55 , pp. 224-231
    • Jin, D.K.1
  • 54
    • 33645453479 scopus 로고    scopus 로고
    • The Prader-Willi/Angelman imprinted domain and its control center
    • Kantor B, Shemer R, Razin A (2006) The Prader-Willi/Angelman imprinted domain and its control center. Cytogenet Genome Res 113: 300-305.
    • (2006) Cytogenet Genome Res , vol.113 , pp. 300-305
    • Kantor, B.1    Shemer, R.2    Razin, A.3
  • 55
    • 77957937450 scopus 로고    scopus 로고
    • Epigenetic modifications as therapeutic targets
    • Kelly TK, De Carvalho DD, Jones PA (2010) Epigenetic modifications as therapeutic targets. Nat Biotechnol 28: 1069-1078.
    • (2010) Nat Biotechnol , vol.28 , pp. 1069-1078
    • Kelly, T.K.1    de Carvalho, D.D.2    Jones, P.A.3
  • 57
    • 54549093572 scopus 로고    scopus 로고
    • Genomic imprinting: A balance between antagonistic roles of parental chromosomes
    • Kinoshita T, Ikeda Y, Ishikawa R (2008) Genomic imprinting: a balance between antagonistic roles of parental chromosomes. Semin Cell Dev Biol 19: 574-579.
    • (2008) Semin Cell Dev Biol , vol.19 , pp. 574-579
    • Kinoshita, T.1    Ikeda, Y.2    Ishikawa, R.3
  • 58
    • 27144431762 scopus 로고    scopus 로고
    • Dissecting MECP2 function in the central nervous system
    • Kishi N, Macklis JD (2005) Dissecting MECP2 function in the central nervous system. J Child Neurol 20: 753-759.
    • (2005) J Child Neurol , vol.20 , pp. 753-759
    • Kishi, N.1    Macklis, J.D.2
  • 62
    • 79960108626 scopus 로고    scopus 로고
    • The methylation hypothesis: Do epigenetic chromatin modifications play a role in epileptogenesis?
    • Kobow K, Blümcke I (2011) The methylation hypothesis: do epigenetic chromatin modifications play a role in epileptogenesis? Epilepsia 52 (Suppl 4): 15-19.
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 4 , pp. 15-19
    • Kobow, K.1    Blümcke, I.2
  • 63
    • 55949105176 scopus 로고    scopus 로고
    • Genetic and epigenetic defects in mental retardation
    • Kramer JM, van Bokhoven H (2009) Genetic and epigenetic defects in mental retardation Int J Biochem Cell Biol 41: 96-107.
    • (2009) Int J Biochem Cell Biol , vol.41 , pp. 96-107
    • Kramer, J.M.1    van Bokhoven, H.2
  • 65
    • 68349135058 scopus 로고    scopus 로고
    • Histone modification patterns and epigenetic codes
    • Lennartsson A, Ekwall K (2009) Histone modification patterns and epigenetic codes. Biochim Biophys Acta 1790: 863-868.
    • (2009) Biochim Biophys Acta , pp. 863-868
    • Lennartsson, A.1    Ekwall, K.2
  • 67
    • 22244480982 scopus 로고    scopus 로고
    • Mutation analysis of methyl-CpG binding protein family genes in autistic patients
    • Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY (2005) Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev 27: 321-325.
    • (2005) Brain Dev , vol.27 , pp. 321-325
    • Li, H.1    Yamagata, T.2    Mori, M.3    Yasuhara, A.4    Momoi, M.Y.5
  • 69
    • 29644439879 scopus 로고    scopus 로고
    • CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
    • Lin C, Franco B, Rosner MR (2005) CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 14: 3775-3786.
    • (2005) Hum Mol Genet , vol.14 , pp. 3775-3786
    • Lin, C.1    Franco, B.2    Rosner, M.R.3
  • 70
    • 84870259644 scopus 로고    scopus 로고
    • Epileptogenesis: Can the science of epigenetics give us answers?
    • Lubin FD (2012) Epileptogenesis: can the science of epigenetics give us answers? Epilepsy Curr 12: 105-110.
    • (2012) Epilepsy Curr , vol.12 , pp. 105-110
    • Lubin, F.D.1
  • 72
    • 59249094782 scopus 로고    scopus 로고
    • Imprinting disorders and assisted reproductive technology
    • Manipalviratn S, DeCherney A, Segars J (2009) Imprinting disorders and assisted reproductive technology. Fertil Steril 91: 305-315.
    • (2009) Fertil Steril , vol.91 , pp. 305-315
    • Manipalviratn, S.1    Decherney, A.2    Segars, J.3
  • 75
    • 0030582991 scopus 로고    scopus 로고
    • Interleukin (IL)-1 beta, IL-2, IL-4, IL-6 and transforming growth factor-alpha levels are elevated in ventricular cerebrospinal fluid in juvenile parkinsonism and Parkinson's disease
    • Mogi M, Harada M, Narabayashi H, Inagaki H, Minami M, Nagatsu T (1996) Interleukin (IL)-1 beta, IL-2, IL-4, IL-6 and transforming growth factor-alpha levels are elevated in ventricular cerebrospinal fluid in juvenile parkinsonism and Parkinson's disease. Neurosci Lett 211: 13-16.
    • (1996) Neurosci Lett , vol.211 , pp. 13-16
    • Mogi, M.1    Harada, M.2    Narabayashi, H.3    Inagaki, H.4    Minami, M.5    Nagatsu, T.6
  • 77
    • 84865780870 scopus 로고    scopus 로고
    • The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
    • Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B (2012) The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Hum Mol Genet 21: 4038-4048.
    • (2012) Hum Mol Genet , vol.21 , pp. 4038-4048
    • Neumann, L.C.1    Markaki, Y.2    Mladenov, E.3    Hoffmann, D.4    Buiting, K.5    Horsthemke, B.6
  • 78
    • 78651268931 scopus 로고    scopus 로고
    • Histone methyltransferases: Regulation of transcription and contribution to human disease
    • Nimura K, Ura K, Kaneda Y (2010) Histone methyltransferases: regulation of transcription and contribution to human disease. J Mol Med (Berl) 88: 1213-1220.
    • (2010) J Mol Med (Berl) , vol.88 , pp. 1213-1220
    • Nimura, K.1    Ura, K.2    Kaneda, Y.3
  • 79
    • 84879602261 scopus 로고    scopus 로고
    • Reactivation of the inactive X chromosome in development and reprogramming
    • [Epub ahead of print]
    • Ohhata T, Wutz A (2012) Reactivation of the inactive X chromosome in development and reprogramming. Cell Mol Life Sci [Epub ahead of print].
    • (2012) Cell Mol Life Sci
    • Ohhata, T.1    Wutz, A.2
  • 82
    • 69349097243 scopus 로고    scopus 로고
    • Imprinting disorders and assisted reproductive technology
    • Owen CM, Segars JH Jr (2009) Imprinting disorders and assisted reproductive technology. Semin Reprod Med 27: 417-428.
    • (2009) Semin Reprod Med , vol.27 , pp. 417-428
    • Owen, C.M.1    Segars Jr., J.H.2
  • 84
    • 70349974168 scopus 로고    scopus 로고
    • The state of synapses in fragile X syndrome
    • Pfeiffer BE, Huber KM (2009) The state of synapses in fragile X syndrome. Neuroscientist. 15: 549-567.
    • (2009) Neuroscientist , vol.15 , pp. 549-567
    • Pfeiffer, B.E.1    Huber, K.M.2
  • 85
    • 0036306870 scopus 로고    scopus 로고
    • Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
    • Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF (2002) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71: 168-173.
    • (2002) Am J Hum Genet , vol.71 , pp. 168-173
    • Plenge, R.M.1    Stevenson, R.A.2    Lubs, H.A.3    Schwartz, C.E.4    Willard, H.F.5
  • 86
    • 77957970301 scopus 로고    scopus 로고
    • Epigenetic modifications and human disease
    • Portela A, Esteller M (2010) Epigenetic modifications and human disease. Nat Biotechnol 28: 1057-1068.
    • (2010) Nat Biotechnol , vol.28 , pp. 1057-1068
    • Portela, A.1    Esteller, M.2
  • 88
    • 77955280094 scopus 로고    scopus 로고
    • The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation
    • Qiu J, Shi G, Jia Y, Li J, Wu M, Li J, Dong S, Wong J (2010) The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. Cell Res 20: 908-918.
    • (2010) Cell Res , vol.20 , pp. 908-918
    • Qiu, J.1    Shi, G.2    Jia, Y.3    Li, J.4    Wu, M.5    Li, J.6    Dong, S.7    Wong, J.8
  • 89
    • 84864126183 scopus 로고    scopus 로고
    • Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease
    • Qureshi IA, Mehler MF (2012) Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease. Nat Rev Neurosci 13: 528-541.
    • (2012) Nat Rev Neurosci , vol.13 , pp. 528-541
    • Qureshi, I.A.1    Mehler, M.F.2
  • 90
    • 77952887283 scopus 로고    scopus 로고
    • Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis
    • Qureshi IA, Mehler MF (2010) Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis. Neurobiol Dis 39: 53-60.
    • (2010) Neurobiol Dis , vol.39 , pp. 53-60
    • Qureshi, I.A.1    Mehler, M.F.2
  • 93
    • 23444446431 scopus 로고    scopus 로고
    • DNA methylation in epigenetic control of gene expression
    • Razin A, Kantor B (2005) DNA methylation in epigenetic control of gene expression. Prog Mol Subcell Biol 38: 151-167.
    • (2005) Prog Mol Subcell Biol , vol.38 , pp. 151-167
    • Razin, A.1    Kantor, B.2
  • 99
    • 35448932480 scopus 로고    scopus 로고
    • Rubinstein-Taybi syndrome: Clinical and molecular overview
    • Roelfsema JH, Peters DJ (2007) Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med 9: 1-16.
    • (2007) Expert Rev Mol Med , vol.9 , pp. 1-16
    • Roelfsema, J.H.1    Peters, D.J.2
  • 100
    • 84892443188 scopus 로고    scopus 로고
    • Role of FMRP protein: Function and role in pathogenesis of Fragile X Syndrome (in Polish)
    • Rzońca SO, Gos M (2012) Role of FMRP protein: function and role in pathogenesis of Fragile X Syndrome (in Polish). Poste{ogonek}py Biologii Komórki 39: 459-476.
    • (2012) Poste{ogonek}py Biologii Komórki , vol.39 , pp. 459-476
    • Rzońca, S.O.1    Gos, M.2
  • 103
    • 57349153823 scopus 로고    scopus 로고
    • FMR1-related disorders
    • Internet, Pagon RA, Bird TD, Dolan CR, et al., Eds, University of Washington, Seattle, W, Available at
    • Saul RA, Tarleton JC (2012) FMR1-related disorders. In: GeneReviews™ [Internet] (Pagon RA, Bird TD, Dolan CR, et al., Eds). University of Washington, Seattle, WA [Available at http://www.ncbi.nlm.nih.gov/books/NBK1384/]
    • (2012) GeneReviews™
    • Saul, R.A.1    Tarleton, J.C.2
  • 104
    • 80051932192 scopus 로고    scopus 로고
    • Childhood outcomes of assisted reproductive technology
    • Savage T, Peek J, Hofman PL, Cutfield WS (2011) Childhood outcomes of assisted reproductive technology. Hum Reprod 26: 2392-2400.
    • (2011) Hum Reprod , vol.26 , pp. 2392-2400
    • Savage, T.1    Peek, J.2    Hofman, P.L.3    Cutfield, W.S.4
  • 105
    • 0034891348 scopus 로고    scopus 로고
    • Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene
    • Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M (2001) Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32: 162-164.
    • (2001) Neuropediatrics , vol.32 , pp. 162-164
    • Schwartzman, J.S.1    Bernardino, A.2    Nishimura, A.3    Gomes, R.R.4    Zatz, M.5
  • 106
    • 79958799392 scopus 로고    scopus 로고
    • The etiologic classification of epilepsy
    • Shorvon SD (2011) The etiologic classification of epilepsy. Epilepsia 52: 1052-1057.
    • (2011) Epilepsia , vol.52 , pp. 1052-1057
    • Shorvon, S.D.1
  • 107
    • 33645453109 scopus 로고    scopus 로고
    • Regulation of growth and metabolism by imprinted genes
    • Smith FM, Garfield AS, Ward A (2006) Regulation of growth and metabolism by imprinted genes. Cytogenet Genome Res 113: 279-291.
    • (2006) Cytogenet Genome Res , vol.113 , pp. 279-291
    • Smith, F.M.1    Garfield, A.S.2    Ward, A.3
  • 108
    • 84857853505 scopus 로고    scopus 로고
    • MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H mice
    • Stuss DP, Boyd JD, Levin DB, Delaney KR (2012) MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H mice. PLoS One 7: e31896.
    • (2012) PLoS One , vol.7 , pp. 31896
    • Stuss, D.P.1    Boyd, J.D.2    Levin, D.B.3    Delaney, K.R.4
  • 113
    • 70449725209 scopus 로고    scopus 로고
    • Epigenetic mechanisms in neurological diseases: Genes, syndromes, and therapies
    • Urdinguio RG, Sanchez-Mut JV, Esteller M (2009) Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol 8: 1056-1072.
    • (2009) Lancet Neurol , vol.8 , pp. 1056-1072
    • Urdinguio, R.G.1    Sanchez-Mut, J.V.2    Esteller, M.3
  • 114
    • 77952887052 scopus 로고    scopus 로고
    • Disruption of the epigenetic code: An emerging mechanism in mental retardation
    • van Bokhoven H, Kramer JM (2010) Disruption of the epigenetic code: an emerging mechanism in mental retardation. Neurobiol Dis 39: 3-12.
    • (2010) Neurobiol Dis , vol.39 , pp. 3-12
    • van Bokhoven, H.1    Kramer, J.M.2
  • 116
    • 84902552829 scopus 로고    scopus 로고
    • MECP2 duplication syndrome
    • Internet, Pagon RA, Bird TD, Dolan CR, et al., Eds, University of Washington, Seattle, WA, Available at
    • Van Esch H (2010) MECP2 duplication syndrome. In: GeneReviews™ [Internet] (Pagon RA, Bird TD, Dolan CR, et al., Eds) University of Washington, Seattle, WA [Available at: http://www.ncbi.nlm.nih.gov/books/NBK1284/]
    • (2010) GeneReviews™
    • van Esch, H.1
  • 119
    • 77951949256 scopus 로고    scopus 로고
    • Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects
    • Wang L, Wang F, Guan J, Le J, Wu L, Zou J, Zhao H, Pei L, Zheng X, Zhang T (2010) Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects. Am J Clin Nutr 91: 1359-1367.
    • (2010) Am J Clin Nutr , vol.91 , pp. 1359-1367
    • Wang, L.1    Wang, F.2    Guan, J.3    Le, J.4    Wu, L.5    Zou, J.6    Zhao, H.7    Pei, L.8    Zheng, X.9    Zhang, T.10
  • 121
    • 79961128595 scopus 로고    scopus 로고
    • CGG repeat in the FMR1 gene: Size matters
    • Willemsen R, Levenga J, Oostra BA (2011) CGG repeat in the FMR1 gene: size matters. Clin Genet 80: 214-225.
    • (2011) Clin Genet , vol.80 , pp. 214-225
    • Willemsen, R.1    Levenga, J.2    Oostra, B.A.3
  • 122
    • 77955173454 scopus 로고    scopus 로고
    • Clinical and genetic aspects of Angelman syndrome
    • Williams CA, Driscoll DJ, Dagli AI (2010) Clinical and genetic aspects of Angelman syndrome. Genet Med 12: 385-395.
    • (2010) Genet Med , vol.12 , pp. 385-395
    • Williams, C.A.1    Driscoll, D.J.2    Dagli, A.I.3
  • 126
    • 84865863393 scopus 로고    scopus 로고
    • Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome
    • Zhang Q, Bouma GJ, McClellan K, Tobet S (2012) Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome. Int J Dev Neurosci 30: 479-485.
    • (2012) Int J Dev Neurosci , vol.30 , pp. 479-485
    • Zhang, Q.1    Bouma, G.J.2    McClellan, K.3    Tobet, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.